Incidental Mutation 'IGL02659:Ces2b'
| ID |
302490 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL02659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 105559202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
| AlphaFold |
Q6PDB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059449
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
10 |
535 |
8.5e-175 |
PFAM |
|
Pfam:Abhydrolase_3
|
140 |
305 |
1.8e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
161 |
296 |
9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163042
|
| SMART Domains |
Protein: ENSMUSP00000124796
Gene: ENSMUSG00000050097
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,708,298 (GRCm39) |
N192I |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,849 (GRCm39) |
I192F |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,379 (GRCm39) |
F971L |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,302,274 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,421,469 (GRCm39) |
T1087M |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,573,115 (GRCm39) |
D219G |
unknown |
Het |
| Desi2 |
G |
A |
1: 178,076,843 (GRCm39) |
A116T |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,665 (GRCm39) |
Q202L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,405,895 (GRCm39) |
P715L |
probably damaging |
Het |
| Higd1c |
A |
T |
15: 100,281,622 (GRCm39) |
M249L |
probably benign |
Het |
| Il5ra |
T |
A |
6: 106,719,644 (GRCm39) |
H63L |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,014,469 (GRCm39) |
C543S |
probably damaging |
Het |
| Lnpep |
T |
A |
17: 17,791,162 (GRCm39) |
I461F |
possibly damaging |
Het |
| Lum |
A |
G |
10: 97,404,609 (GRCm39) |
H168R |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,762,591 (GRCm39) |
E77G |
possibly damaging |
Het |
| Mrpl13 |
T |
C |
15: 55,421,135 (GRCm39) |
|
probably null |
Het |
| Mtpap |
T |
A |
18: 4,380,703 (GRCm39) |
L127* |
probably null |
Het |
| Myo15a |
T |
C |
11: 60,382,609 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,542,514 (GRCm39) |
S726G |
probably benign |
Het |
| Nlrp5 |
C |
A |
7: 23,118,006 (GRCm39) |
H577N |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,554 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,289 (GRCm39) |
M140V |
probably benign |
Het |
| Or2h15 |
C |
T |
17: 38,441,427 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,364 (GRCm39) |
D382E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,907,069 (GRCm39) |
L516* |
probably null |
Het |
| Prune1 |
A |
G |
3: 95,162,711 (GRCm39) |
S321P |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Thbs1 |
T |
G |
2: 117,945,273 (GRCm39) |
V282G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,235,332 (GRCm39) |
R880C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,449,979 (GRCm39) |
I75S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,630,063 (GRCm39) |
I2690K |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,674,563 (GRCm39) |
N94S |
possibly damaging |
Het |
|
| Other mutations in Ces2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Ces2b
|
APN |
8 |
105,561,236 (GRCm39) |
splice site |
probably benign |
|
|
IGL01905:Ces2b
|
APN |
8 |
105,560,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Ces2b
|
APN |
8 |
105,561,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Ces2b
|
APN |
8 |
105,561,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Ces2b
|
UTSW |
8 |
105,563,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Ces2b
|
UTSW |
8 |
105,563,144 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0403:Ces2b
|
UTSW |
8 |
105,560,577 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0600:Ces2b
|
UTSW |
8 |
105,562,542 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0637:Ces2b
|
UTSW |
8 |
105,561,237 (GRCm39) |
splice site |
probably benign |
|
|
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3036:Ces2b
|
UTSW |
8 |
105,561,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3086:Ces2b
|
UTSW |
8 |
105,559,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4761:Ces2b
|
UTSW |
8 |
105,563,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4920:Ces2b
|
UTSW |
8 |
105,563,538 (GRCm39) |
missense |
probably benign |
|
|
R4937:Ces2b
|
UTSW |
8 |
105,559,413 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5211:Ces2b
|
UTSW |
8 |
105,561,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5550:Ces2b
|
UTSW |
8 |
105,565,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5790:Ces2b
|
UTSW |
8 |
105,560,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Ces2b
|
UTSW |
8 |
105,562,901 (GRCm39) |
nonsense |
probably null |
|
|
R6692:Ces2b
|
UTSW |
8 |
105,563,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Ces2b
|
UTSW |
8 |
105,563,501 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6899:Ces2b
|
UTSW |
8 |
105,563,398 (GRCm39) |
splice site |
probably null |
|
|
R7148:Ces2b
|
UTSW |
8 |
105,564,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Ces2b
|
UTSW |
8 |
105,564,472 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7571:Ces2b
|
UTSW |
8 |
105,561,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Ces2b
|
UTSW |
8 |
105,564,017 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7841:Ces2b
|
UTSW |
8 |
105,561,692 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7892:Ces2b
|
UTSW |
8 |
105,559,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Ces2b
|
UTSW |
8 |
105,561,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Ces2b
|
UTSW |
8 |
105,559,258 (GRCm39) |
missense |
unknown |
|
|
R8296:Ces2b
|
UTSW |
8 |
105,563,112 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8721:Ces2b
|
UTSW |
8 |
105,560,527 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9100:Ces2b
|
UTSW |
8 |
105,558,221 (GRCm39) |
unclassified |
probably benign |
|
|
R9361:Ces2b
|
UTSW |
8 |
105,564,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9461:Ces2b
|
UTSW |
8 |
105,564,011 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9477:Ces2b
|
UTSW |
8 |
105,560,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ces2b
|
UTSW |
8 |
105,560,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces2b
|
UTSW |
8 |
105,559,227 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation